A heterozygous missense variant in the YWHAG gene causing developmental and epileptic encephalopathy 56 in a Chinese family

• Main Authors: Zhi Yi (Author), Zhenfeng Song (Author), Jiao Xue (Author), Chengqing Yang (Author), Fei Li (Author), Hua Pan (Author), Xuan Feng (Author), Ying Zhang (Author), Hong Pan (Author)
• Format: Book
• Published: BMC, 2022-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of severe disorders that are characterized by early-onset, refractory seizures and developmental slowing or regression. Genetic variations are significant causes of these changes. De novo variants in an...